rs80338682
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;C) | 5 | Birt-Hogg-Dube Syndrome |
| (CAG;CAG) | 0 | common in clinvar |
| Make rs80338682(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 17216394 |
| Gene | FLCN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338682 |
| dbSNP (classic) | rs80338682 |
| ClinGen | rs80338682 |
| ebi | rs80338682 |
| HLI | rs80338682 |
| Exac | rs80338682 |
| Gnomad | rs80338682 |
| Varsome | rs80338682 |
| LitVar | rs80338682 |
| Map | rs80338682 |
| PheGenI | rs80338682 |
| Biobank | rs80338682 |
| 1000 genomes | rs80338682 |
| hgdp | rs80338682 |
| ensembl | rs80338682 |
| geneview | rs80338682 |
| scholar | rs80338682 |
| rs80338682 | |
| pharmgkb | rs80338682 |
| gwascentral | rs80338682 |
| openSNP | rs80338682 |
| 23andMe | rs80338682 |
| SNPshot | rs80338682 |
| SNPdbe | rs80338682 |
| MSV3d | rs80338682 |
| GWAS Ctlg | rs80338682 |
| Max Magnitude | 5 |
rs80338682, also known as c.1285dupC and p.His429Profs, represents a rare mutation in the FLCN gene on chromosome 17.
The rare alternative allele has been linked to Birt-Hogg-Dube syndrome.
| ClinVar | |
|---|---|
| Risk | rs80338682(C;C) rs80338682(G;G) |
| Alt | rs80338682(C;C) rs80338682(G;G) |
| Reference | Rs80338682(-;-) |
| Significance | Pathogenic |
| Disease | not provided Multiple fibrofolliculomas Pneumothorax Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | FLCN LOC101928660 |
| CLNDBN | not provided Multiple fibrofolliculomas Pneumothorax, primary spontaneous Hereditary cancer-predisposing syndrome |
| Reversed | 1 |
| HGVS | NC_000017.10:g.17119708_17119709insC; NC_000017.10:g.17119709dupG |
| CLNSRC | HGMD OMIM Allelic Variant |
| CLNACC | RCV000479575.1, RCV000003529.5, RCV000003530.3, RCV000082626.5, RCV000130568.3, |
[PMID 12204536] Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome.
[PMID 12471204
] Clinical and genetic studies of Birt-Hogg-Dube syndrome.
[PMID 15852235] Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome.
[PMID 17496196] Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax.
[PMID 18505456] Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax.
